{{Short description|Human gene}} {{cs1 config|name-list-style=vanc|display-authors=6}} {{infobox gene}} '''Cysteinyl-tRNA synthetase 1''' is an enzyme (EC 6.1.1.16) that in humans is encoded by the '''''CARS1''''' gene. It is an aminoacyl tRNA synthetase that attaches the cysteine amino acid onto its corresponding transfer RNA (tRNA). Cysteinyl tRNA in turn is used by the ribosome to transfer cysteine onto a growing peptide chain during protein synthesis, according to the genetic code.<ref name="Sung_2022">{{cite journal | vauthors = Sung Y, Yoon I, Han JM, Kim S | title = Functional and pathologic association of aminoacyl-tRNA synthetases with cancer | journal = Experimental & Molecular Medicine | volume = 54 | issue = 5 | pages = 553–566 | issn= 1226-3613 | eissn= 2092-6413 | date = May 2022 | pmid = 35501376 | pmc = 9166799 | doi = 10.1038/s12276-022-00765-5 | doi-access= free | lang= en }}</ref>
== Clinical significance ==
=== Trichothiodystrophy === {{Main|Trichothiodystrophy}} Bi-allelic mutations in ''CARS1'' have been identified to cause the non-photosensitive form of trichothiodystrophy (TTD-NPS).<ref name=":0">{{cite journal | vauthors = Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DE, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GM | title = Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails | language = en | journal = American Journal of Human Genetics | volume = 104 | issue = 3 | pages = 520–529 | issn= 0002-9297 | date = March 2019 | pmid = 30824121 | doi = 10.1016/j.ajhg.2019.01.006 | doi-access= free | pmc = 6407526 }}</ref> This disorder is characterized by neurodevelopmental problems, sulfur-deficient brittle hair and nails, ichthyosis, and growth retardation.<ref>{{Cite web |title=Orphanet: Trichothiodystrophy |url=https://www.orpha.net/en/disease/detail/33364 |access-date=2025-03-01 |website= Orphanet | archiveurl= https://web.archive.org/web/20240530224637/www.orpha.net/en/disease/detail/33364 | archivedate=2024-05-30 | url-status= live | lang= en }}</ref> In contrast to the photosensitive version of TTD (PS-TTD), which has the characteristics of progressive neuropathy and accelerated aging, NPS-TTD is not linked with premature aging.<ref>{{cite journal | vauthors = Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DE, Mendes MI, Swagemakers SM, van der Spek PJ, Salomons GS, Hoeijmakers JH, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W | title = Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy | journal = Human Molecular Genetics | volume = 30 | issue = 18 | pages = 1711–1720 | issn= 0964-6906 | date = August 2021 | pmid = 33909043 | doi = 10.1093/hmg/ddab123 | doi-access= free | url= https://academic.oup.com/hmg/article/30/18/1711/6256034 | archiveurl= https://web.archive.org/web/20240523035056/academic.oup.com/hmg/article/30/18/1711/6256034 | archivedate= 2024-05-23 | url-status= live | lang= en | hdl = 1765/136751 | hdl-access = free | pmc = 8411986 }}</ref>
According to one study, individuals who present with bi-allelic ''CARS'' loss-of-function mutations are unique in presenting with a brittle-hair-and-nail phenotype, which could be related to the high cysteine content in human keratins.<ref name=":0" />
== References == {{reflist}}
Category:EC 6.1.1 Category:Protein biosynthesis Category:Human proteins